Canonical Allele Identifier: CA658824084
Community Standard Title: NM_014963.3(SBNO2):c.3177_3189dup (p.Tyr1064AlafsTer6)
Gene: SBNO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1109534_1109546dup , CM000681.2:g.1109534_1109546dup GRCh38
NC_000019.9:g.1109533_1109545dup , CM000681.1:g.1109533_1109545dup GRCh37
NC_000019.8:g.1060533_1060545dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014963.3:c.3177_3189dup MANE Select NP_055778.2:p.Tyr1064AlafsTer6
ENST00000361757.8:c.3177_3189dup MANE Select ENSP00000354733.2:p.Tyr1064AlafsTer6
NM_001100122.1:c.3006_3018dup NP_001093592.1:p.Tyr1007AlafsTer6
NM_001100122.2:c.3006_3018dup NP_001093592.1:p.Tyr1007AlafsTer6
NM_014963.2:c.3177_3189dup NP_055778.2:p.Tyr1064AlafsTer6
ENST00000361757.7:c.3177_3189dup ENSP00000354733.2:p.Tyr1064AlafsTer6
ENST00000438103.6:c.3006_3018dup ENSP00000400762.1:p.Tyr1007AlafsTer6
ENST00000586109.1:n.421_433dup
ENST00000587024.5:c.3147_3159dup ENSP00000468520.1:p.Tyr1054AlafsTer6
ENST00000587673.5:n.468_480dup
XM_005259519.3:c.3177_3189dup XP_005259576.1:p.Tyr1064AlafsTer6
XM_005259520.2:c.3177_3189dup XP_005259577.1:p.Tyr1064AlafsTer6
XM_011527803.1:c.2955_2967dup XP_011526105.1:p.Tyr990AlafsTer6
XM_011527804.1:c.3177_3189dup XP_011526106.1:p.Tyr1064AlafsTer6
XM_011527804.3:c.3177_3189dup XP_011526106.1:p.Tyr1064AlafsTer6